| Abdominal aortic aneurysm |
5.0 |
| Cryptorchidism |
20.0 |
| Hydroureter |
5.0 |
| Hydronephrosis |
10.0 |
| Xerostomia |
5.0 |
| Pectus excavatum |
5.0 |
| Pectus carinatum |
10.0 |
| Congenital hip dislocation |
5.0 |
| Oligohydramnios |
5.0 |
| Patent ductus arteriosus |
5.0 |
| Talipes equinovarus |
10.0 |
| Anal atresia |
5.0 |
| Prune belly |
5.0 |
| Aplasia of the abdominal wall musculature |
5.0 |
| Congenital posterior urethral valve |
5.0 |
| Slow pupillary light response |
5.0 |
| Strabismus |
25.0 |
| Abducens palsy |
5.0 |
| Cleft palate |
20.0 |
| Cleft upper lip |
5.0 |
| Microcephaly |
10.0 |
| Esotropia |
5.0 |
| Microphthalmia |
5.0 |
| Hypertension |
5.0 |
| Cutis marmorata |
5.0 |
| Brachydactyly |
25.0 |
| Intellectual disability |
25.0 |
| Seizure |
10.0 |
| Global developmental delay |
5.0 |
| Generalized hypotonia |
5.0 |
| Pachygyria |
5.0 |
| Calvarial skull defect |
5.0 |
| Alopecia |
5.0 |
| Ventricular septal defect |
10.0 |
| Atrial septal defect |
5.0 |
| Tetralogy of Fallot |
5.0 |
| Pulmonic stenosis |
5.0 |
| Bicuspid aortic valve |
5.0 |
| Aortic valve stenosis |
5.0 |
| Toe syndactyly |
10.0 |
| Small nail |
5.0 |
| Hypoplasia of the corpus callosum |
10.0 |
| Encephalocele |
5.0 |
| Pulmonary arterial hypertension |
5.0 |
| Ventriculomegaly |
10.0 |
| Polymicrogyria |
5.0 |
| Cortical dysplasia |
5.0 |
| Supernumerary nipple |
5.0 |
| Hypoplastic left heart |
5.0 |
| Pulmonary artery stenosis |
5.0 |
| Periventricular leukomalacia |
5.0 |
| Aplasia cutis congenita on trunk or limbs |
5.0 |
| Aplasia cutis congenita over posterior parietal area |
5.0 |
| Imperforate hymen |
5.0 |
| Acanthosis nigricans |
5.0 |
| Brachycephaly |
15.0 |
| Micrognathia |
15.0 |
| Arachnodactyly |
5.0 |
| Joint hypermobility |
10.0 |
| Broad skull |
5.0 |
| Hydrocephalus |
20.0 |
| Macrocephaly |
5.0 |
| Malar flattening |
20.0 |
| Recurrent otitis media |
5.0 |
| Conductive hearing impairment |
5.0 |
| Choanal stenosis |
15.0 |
| Short ribs |
5.0 |
| Motor delay |
5.0 |
| Megalencephaly |
10.0 |
| Limited elbow extension |
5.0 |
| Polyhydramnios |
10.0 |
| Premature rupture of membranes |
5.0 |
| Frontal bossing |
10.0 |
| Pulmonary hypoplasia |
5.0 |
| Respiratory distress |
5.0 |
| Brain stem compression |
5.0 |
| Small foramen magnum |
5.0 |
| Generalized joint hypermobility |
5.0 |
| Upper airway obstruction |
5.0 |
| Lumbar hyperlordosis |
5.0 |
| Genu varum |
5.0 |
| Femoral bowing |
5.0 |
| Radial bowing |
5.0 |
| Flared metaphysis |
5.0 |
| Ulnar bowing |
5.0 |
| Limited hip extension |
5.0 |
| Short femur |
5.0 |
| Narrow greater sciatic notch |
5.0 |
| Trident hand |
5.0 |
| Severe platyspondyly |
5.0 |
| Thoracic hypoplasia |
5.0 |
| Depressed nasal bridge |
20.0 |
| Spinal stenosis with reduced interpedicular distance |
5.0 |
| Lumbar kyphosis in infancy |
5.0 |
| Narrow vertebral interpedicular distance |
10.0 |
| Rhizomelia |
5.0 |
| Neonatal short-limb short stature |
5.0 |
| Floppy infant |
5.0 |
| Midface retrusion |
15.0 |
| Feeding difficulties |
5.0 |
| Short femoral neck |
5.0 |
| Paroxysmal sneezing |
5.0 |
| Tinnitus |
5.0 |
| Hearing impairment |
20.0 |
| Visual loss |
5.0 |
| Diplopia |
5.0 |
| Personality changes |
5.0 |
| Cafe-au-lait spot |
5.0 |
| Axillary freckling |
5.0 |
| Neurofibroma |
5.0 |
| Ataxia |
5.0 |
| Headache |
5.0 |
| Vertigo |
5.0 |
| Ependymoma |
5.0 |
| Juvenile posterior subcapsular lenticular opacities |
5.0 |
| Bilateral vestibular schwannoma |
5.0 |
| Unilateral vestibular schwannoma |
5.0 |
| Astrocytoma |
5.0 |
| Peripheral schwannoma |
5.0 |
| Retinal hamartoma |
5.0 |
| Lisch nodules |
5.0 |
| Peripheral neuropathy |
5.0 |
| Inguinal freckling |
5.0 |
| Epiretinal membrane |
5.0 |
| Cortical cataract |
5.0 |
| Optic nerve sheath meningioma |
5.0 |
| Vaginal atresia |
5.0 |
| Narrow palate |
10.0 |
| Bifid uvula |
5.0 |
| High palate |
10.0 |
| Thin upper lip vermilion |
5.0 |
| Large fontanelles |
5.0 |
| Brachyturricephaly |
10.0 |
| Delayed cranial suture closure |
10.0 |
| Mandibular prognathia |
20.0 |
| Hypertelorism |
20.0 |
| Broad forehead |
5.0 |
| High forehead |
10.0 |
| Posteriorly rotated ears |
5.0 |
| Low-set ears |
10.0 |
| Chronic otitis media |
5.0 |
| Choanal atresia |
10.0 |
| Anteverted nares |
10.0 |
| Downslanted palpebral fissures |
15.0 |
| Myopia |
5.0 |
| Shallow orbits |
15.0 |
| Delayed eruption of teeth |
10.0 |
| Dental malocclusion |
10.0 |
| Hyperhidrosis |
5.0 |
| Acne |
5.0 |
| Postaxial hand polydactyly |
5.0 |
| Preaxial hand polydactyly |
5.0 |
| Agenesis of corpus callosum |
5.0 |
| Cerebellar hypoplasia |
5.0 |
| Absent septum pellucidum |
5.0 |
| Pyloric stenosis |
5.0 |
| Esophageal atresia |
5.0 |
| Overriding aorta |
5.0 |
| Delayed epiphyseal ossification |
5.0 |
| Limited elbow movement |
5.0 |
| Humeroradial synostosis |
10.0 |
| Ectopic anus |
5.0 |
| Coronal craniosynostosis |
15.0 |
| Sagittal craniosynostosis |
5.0 |
| Lambdoidal craniosynostosis |
10.0 |
| Anomalous tracheal cartilage |
5.0 |
| Acrobrachycephaly |
5.0 |
| Cervical C5/C6 vertebrae fusion |
5.0 |
| Rhizomelic arm shortening |
5.0 |
| Synostosis of carpal bones |
5.0 |
| Wide intermamillary distance |
5.0 |
| Chiari type I malformation |
5.0 |
| Posterior fossa cyst |
5.0 |
| Abnormal morphology of the limbic system |
5.0 |
| Broad distal hallux |
5.0 |
| Broad distal phalanx of the thumb |
5.0 |
| Cutaneous finger syndactyly |
5.0 |
| Cutaneous syndactyly of toes |
5.0 |
| Prominent forehead |
5.0 |
| Flat face |
10.0 |
| Arachnoid cyst |
5.0 |
| Oxycephaly |
5.0 |
| Low anterior hairline |
5.0 |
| Facial asymmetry |
5.0 |
| Hypoplasia of the maxilla |
15.0 |
| Convex nasal ridge |
5.0 |
| Narrow nose |
5.0 |
| Ptosis |
5.0 |
| Buphthalmos |
5.0 |
| Abnormal nasolacrimal system morphology |
5.0 |
| Plagiocephaly |
5.0 |
| Abnormal heart morphology |
5.0 |
| Hallux valgus |
5.0 |
| Intellectual disability, moderate |
5.0 |
| Abnormal pelvic girdle bone morphology |
5.0 |
| Skull asymmetry |
5.0 |
| Parietal foramina |
5.0 |
| Radioulnar synostosis |
5.0 |
| Breast carcinoma |
5.0 |
| Long nose |
5.0 |
| Clinodactyly of the 5th finger |
5.0 |
| Short stature |
10.0 |
| Flat forehead |
5.0 |
| Microtia |
5.0 |
| Prominent crus of helix |
5.0 |
| Partial duplication of the distal phalanx of the 2nd finger |
5.0 |
| Partial duplication of the distal phalanx of the 3rd finger |
5.0 |
| Absent first metatarsal |
5.0 |
| Cleft of chin |
5.0 |
| Dental crowding |
5.0 |
| Chiari malformation |
5.0 |
| Cloverleaf skull |
5.0 |
| Bronchomalacia |
5.0 |
| Elbow ankylosis |
5.0 |
| Short nose |
5.0 |
| Short middle phalanx of toe |
5.0 |
| Tracheal cartilaginous sleeve |
5.0 |
| Finger syndactyly |
5.0 |
| Shortening of all middle phalanges of the fingers |
5.0 |
| Broad hallux |
5.0 |
| Broad thumb |
5.0 |
| 3-4 toe cutaneous syndactyly |
5.0 |
| Unilateral renal agenesis |
5.0 |
| Hypogonadism |
5.0 |
| Epicanthus |
5.0 |
| Broad nasal tip |
5.0 |
| Blue irides |
5.0 |
| Optic atrophy |
5.0 |
| Hypodontia |
5.0 |
| Congenital hypothyroidism |
5.0 |
| Irregular menstruation |
5.0 |
| Melanocytic nevus |
5.0 |
| Broad palm |
5.0 |
| Intrauterine growth retardation |
10.0 |
| Small for gestational age |
5.0 |
| Mild postnatal growth retardation |
5.0 |
| Long hallux |
5.0 |
| Scoliosis |
5.0 |
| Hyperphosphatemia |
5.0 |
| Elevated circulating thyroid-stimulating hormone concentration |
5.0 |
| Dislocated radial head |
5.0 |
| Elevated circulating parathyroid hormone level |
5.0 |
| Spinal canal stenosis |
5.0 |
| Elevated circulating calcitonin concentration |
5.0 |
| Short palm |
10.0 |
| Calvarial hyperostosis |
5.0 |
| Accelerated skeletal maturation |
5.0 |
| Neonatal epiphyseal stippling |
5.0 |
| Hypoplastic vertebral bodies |
5.0 |
| Disproportionate short-limb short stature |
5.0 |
| Short phalanx of finger |
5.0 |
| Short metacarpal |
5.0 |
| Cone-shaped epiphyses of the phalanges of the hand |
5.0 |
| Short metatarsal |
5.0 |
| Mild global developmental delay |
5.0 |
| Decreased growth hormone responses to growth hormone-releasing hormone challenge |
5.0 |
| Hypospadias |
5.0 |
| Widow's peak |
5.0 |
| Prominent nose |
5.0 |
| Webbed neck |
5.0 |
| Carious teeth |
5.0 |
| Single transverse palmar crease |
5.0 |
| Cerebellar vermis hypoplasia |
5.0 |
| Cerebral cortical atrophy |
5.0 |
| Enlarged cisterna magna |
5.0 |
| Spina bifida occulta |
5.0 |
| Preauricular pit |
5.0 |
| Mandibulofacial dysostosis |
5.0 |
| Fine hair |
5.0 |
| Allergy |
5.0 |
| Papule |
5.0 |
| Skin plaque |
5.0 |
| Hyperkeratosis |
5.0 |
| Acrokeratosis |
10.0 |
| Ridged nail |
5.0 |
| Punctate palmoplantar hyperkeratosis |
5.0 |
| Verrucous papule |
5.0 |
| Epidermal acanthosis |
5.0 |
| Acantholysis |
5.0 |
| Symmetric great toe depigmentation |
5.0 |
| Tall stature |
5.0 |
| Abnormality of the eye |
5.0 |
| Soft skin |
5.0 |
| Large hands |
10.0 |
| Long foot |
5.0 |
| Cutis gyrata of scalp |
5.0 |
| Periostosis |
5.0 |
| Sloping forehead |
5.0 |
| Bulbous nose |
5.0 |
| Telecanthus |
5.0 |
| Blepharophimosis |
5.0 |
| Synophrys |
5.0 |
| Tapered finger |
5.0 |
| Specific learning disability |
5.0 |
| Large for gestational age |
5.0 |
| Deep philtrum |
5.0 |
| Highly arched eyebrow |
5.0 |
| Thickened calvaria |
5.0 |
| Thick nasal alae |
5.0 |
| Short 5th metacarpal |
5.0 |
| Thick vermilion border |
5.0 |